@book{UBHD-67232605,
  author={Berkel, Simone},
  title={Identifizierung und funktionelle Analyse von SHANK2-Mutationen bei mentaler Retardierung und Autismusspektrumsst{\"o}rungen},
  year={2011},
  pages={98 S.},
  language={ger},
  note={Zsfassung in engl. und dt. Sprache},
  school={Heidelberg, Univ., Diss., 2011},
  library={UB [Signatur: 2012 U 515]},
}
@article{UBHD-68905898,
  author={Berkel, Simone},
  title={Identifizierung und funktionelle Analyse von SHANK2-Mutationen bei mentaler Retardierung und Autismus},
  year={2013},
  pages={256-257},
  language={ger},
  issn={0341-2865},
  note={Elektronische Reproduktion der Druckausgabe},
  journal={Jahrbuch der Heidelberger Akademie der Wissenschaften f{\"u}r ...},
  doi={10.11588/diglit.55656.53},
  url={https://doi.org/10.11588/diglit.55656.53},
  library={UB},
}
@article{UBHD-68239069,
  author={Berkel, Simone and Gass, Peter and Schratt, Gerhard and Rappold, Gudrun},
  title={Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology},
  year={2012},
  pages={344-357},
  language={eng},
  issn={1460-2083},
  volume={21},
  number={2},
  note={Gesehen am 04.04.2018},
  journal={Human molecular genetics},
  doi={10.1093/hmg/ddr470},
}
@article{UBHD-67301456,
  author={Berkel, Simone and Schratt, Gerhard and Rappold, Gudrun},
  title={Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology},
  year={2012},
  pages={344-357},
  language={eng},
  issn={0964-6906},
  volume={21},
  number={2},
  journal={Human molecular genetics},
}
@article{UBHD-69008531,
  author={Berkel, Simone and Marshall, Christian R. and Weiß, Birgit and Howe, Jennifer and R{\"o}th, Ralph and Moog, Ute and Endris, Volker and Roberts, Wendy and Szatmari, Peter and Pinto, Dalila and Bonin, Michael and Riess, Angelika and Engels, Hartmut and Sprengel, Rolf and Scherer, Stephen W. and Rappold, Gudrun},
  title={Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation},
  year={2010},
  pages={489-491},
  language={eng},
  issn={1546-1718},
  volume={42},
  number={6},
  note={Gesehen am 20.01.2023},
  journal={Nature genetics},
  doi={10.1038/ng.589},
}
@article{UBHD-68309643,
  author={Berkel, Simone and Eltokhi, Ahmed and Fr{\"o}hlich, Henning and Porras-Gonzalez, Diana and Rafiullah, Rafiullah and Sprengel, Rolf and Rappold, Gudrun},
  title={Sex hormones regulate SHANK expression},
  year={2018},
  pages={10 S.},
  language={eng},
  issn={1662-5099},
  volume={11},
  number={Artikel-ID 337},
  note={Gesehen am 27.09.2018},
  journal={Frontiers in molecular neuroscience},
  doi={10.3389/fnmol.2018.00337},
  url={http://dx.doi.org/10.3389/fnmol.2018.00337},
  library={UB},
}
@article{UBHD-68699542,
  author={Cristian, Flavia-Bianca and K{\"o}ppel, Alexandra and Janssen, Johannes W. G. and Utikal, Jochen and Rappold, Gudrun and Berkel, Simone},
  title={Generation of two hiPSC lines from a patient with autism spectrum disorder harboring a 120 kb deletion in SHANK2 and two control lines from each parent},
  year={2020},
  pages={5 S.},
  language={eng},
  issn={1876-7753},
  volume={49(2020) Artikel-Nummer 102004},
  number={5 Seiten},
  note={Gesehen am 16.02.2021},
  journal={Stem cell research},
  doi={10.1016/j.scr.2020.102004},
}
@article{UBHD-69092246,
  author={Eltokhi, Ahmed and Gonzalez-Lozano, Miguel A. and Oettl, Lars-Lennart and Rozov, Andrei and Pitzer, Claudia and R{\"o}th, Ralph and Berkel, Simone and H{\"u}ser, Markus and Harten, Aliona and Kelsch, Wolfgang and Smit, August B. and Rappold, Gudrun and Sprengel, Rolf},
  title={Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders},
  year={2021},
  pages={6482-6504},
  language={eng},
  issn={1476-5578},
  volume={26},
  note={Gesehen am 03.07.2023},
  journal={Molecular psychiatry},
  doi={10.1038/s41380-021-01140-y},
  url={https://doi.org/10.1038/s41380-021-01140-y},
  library={UB},
}
@article{UBHD-67753852,
  author={Peykov, Slavil and Berkel, Simone and Weiß, Birgit and Rietschel, Marcella and Rappold, Gudrun},
  title={Identification and functional characterization of rare SHANK2 variants in schizophrenia},
  year={2015},
  pages={1489-1498},
  language={eng},
  issn={1476-5578},
  volume={20},
  note={Gesehen am 12.01.2015},
  journal={Molecular psychiatry},
  doi={10.1038/mp.2014.172},
}
@article{UBHD-68180983,
  author={Peykov, Slavil and Berkel, Simone and Rietschel, Marcella and Rappold, Gudrun},
  title={Rare SHANK2 variants in schizophrenia},
  year={2015},
  pages={1487-1488},
  language={eng},
  issn={1476-5578},
  volume={20},
  number={12},
  note={Gesehen am 19.10.2017},
  journal={Molecular psychiatry},
  doi={10.1038/mp.2015.122},
}
@article{UBHD-68618066,
  author={Rafiullah, Rafiullah and Aslamkhan, Muhammad and Paramasivam, Nagarajan and Thiel, Christian and Mustafa, Ghulam and Wiemann, Stefan and Schlesner, Matthias and Wade, Rebecca C. and Rappold, Gudrun and Berkel, Simone},
  title={Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family},
  year={2016},
  pages={138-144},
  language={eng},
  issn={1468-6244},
  volume={53},
  number={2},
  note={Published Online First 13 November 2015 ; Gesehen am 17.07.2020},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2015-103179},
}
@article{UBHD-68319054,
  author={Rafiullah, Rafiullah and Blum, Martin and Berkel, Simone and Paramasivam, Nagarajan and Rappold, Gudrun},
  title={A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity},
  year={2017},
  pages={1324-1334},
  language={eng},
  issn={1476-5438},
  volume={25},
  number={12},
  note={Gesehen am 19.10.2018},
  journal={European journal of human genetics},
  doi={10.1038/s41431-017-0031-0},
}
@article{UBHD-69123981,
  author={Réthelyi, János M. and Vincze, Katalin and Schall, Dorothea and Glennon, Jeffrey and Berkel, Simone},
  title={The role of insulin/IGF1 signalling in neurodevelopmental and neuropsychiatric disorders},
  subtitle={evidence from human neuronal cell models},
  year={2023},
  pages={1-16},
  language={eng},
  issn={1873-7528},
  volume={153(2023) vom: Okt.},
  number={Artikel-ID 105330},
  note={Online ver{\"o}ffentlicht: 27. Juli 2023 ; Gesehen am 21.09.2023},
  journal={Neuroscience & biobehavioral reviews},
  doi={10.1016/j.neubiorev.2023.105330},
}
@book{UBHD-68255560,
  author={Sena Cortabitarte, Ana de and Berkel, Simone and Cristian, Flavia-Bianca and Fischer, Christine and Rappold, Gudrun},
  title={A direct regulatory link between microRNA-137 and SHANK2},
  subtitle={implications for neuropsychiatric disorders},
  publisher={Springer},
  address={New York},
  year={2018},
  pages={1 Online-Ressource},
  language={eng},
  note={Aus: Journal of Neurodevelopmental Disorders, 10 (2018), Nr. 15. pp. 1-11. ISSN 1866-1955},
  doi={10.1186/s11689-018-9233-1},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-243752},
  library={UB},
}
@article{UBHD-68250350,
  author={Sena Cortabitarte, Ana de and Weiß, Birgit and R{\"o}th, Ralph and Fischer, Christine and Rietschel, Marcella and Rappold, Gudrun and Berkel, Simone},
  title={Investigation of SHANK3 in schizophrenia},
  year={2017},
  pages={390-398},
  language={eng},
  issn={1552-485X},
  volume={174},
  number={4},
  note={Gesehen am 08.05.2018},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.b.32528},
}
@article{UBHD-68717429,
  author={Unsicker, Christine and Cristian, Flavia-Bianca and Hahn, Manja von and Eckstein, Volker and Rappold, Gudrun and Berkel, Simone},
  title={SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells},
  year={2021},
  pages={1-15},
  language={eng},
  issn={2045-2322},
  volume={11},
  number={Artikel-ID 2128},
  note={Gesehen am 25.03.2021},
  journal={Scientific reports},
  doi={10.1038/s41598-021-81241-4},
  url={https://doi.org/10.1038/s41598-021-81241-4},
  library={UB},
}